Canonical Allele Identifier: CA379264846

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254516-T-G
• MyVariant Identifiers: chr11:g.5275746T>G (hg19) ; chr11:g.5254516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254516T>G , CM000673.2:g.5254516T>G	GRCh38
NC_000011.9:g.5275746T>G , CM000673.1:g.5275746T>G	GRCh37
NC_000011.8:g.5232322T>G	NCBI36
NG_000007.3:g.43100A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.93-2A>C MANE Select	ENSP00000338082.4:n.93-2A>C
ENST00000380252.6:c.-73-2A>C	ENSP00000369602.2:n.-73-2A>C
ENST00000380259.7:c.1639-2A>C	ENSP00000369609.3:n.1639-2A>C
ENST00000642908.1:c.93-2A>C	ENSP00000495346.1:n.93-2A>C
ENST00000647543.1:c.93-2A>C	ENSP00000496470.1:n.93-2A>C
ENST00000336906.4:c.93-2A>C	ENSP00000338082.4:n.93-2A>C
ENST00000380252.5:c.63-2A>C	ENSP00000369602.1:n.63-2A>C
ENST00000380259.6:c.93-2A>C	ENSP00000369609.2:n.93-2A>C
ENST00000444587.1:c.55-2A>C	ENSP00000488218.1:n.55-2A>C
ENST00000620888.4:c.93-2A>C	ENSP00000479637.1:n.93-2A>C
ENST00000624109.1:c.264T>G	ENSP00000485458.1:p.Pro88=
NM_000184.2:c.93-2A>C	NP_000175.1:n.93-2A>C
NM_000184.3:c.93-2A>C MANE Select	NP_000175.1:n.93-2A>C